Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q

Genome Res. 1998 Nov;8(11):1216-27. doi: 10.1101/gr.8.11.1216.

Abstract

Autosomal dominant familial spastic paraplegia (AD-FSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs. Three loci on chromosome 14q (SPG3), 2p (SPG4), and 15q (SPG6) were shown to be responsible for AD-FSP. Analysis of recombination events in three SPG3-linked families allowed us to narrow the critical interval from 9 to 5 cM. An approximately 5-Mb YAC contig comprising 32 clones and 90 STSs was built from D14S301 to D14S991, encompassing this region of 14q21. Fifty-six ESTs assigned previously to this region with radiation hybrid (RH) panels Genebridge 4 and G3 were precisely localized on the YAC contig. The 90 STSs positioned on the contig were tested on the TNG RH panel to compare our YAC-based map with an RH map at a high level of resolution. Comparison between our map and the whole genome mapping data on this interval of chromosome 14q is discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 14 / genetics*
  • Contig Mapping
  • Expressed Sequence Tags
  • Family Health
  • Female
  • Genome, Human*
  • Humans
  • Hybrid Cells / radiation effects
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Sequence Tagged Sites
  • Spastic Paraplegia, Hereditary / genetics*
  • Transcription, Genetic